Lipoid Proteinosis (Urbach-Wiethe Syndrome)
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Lipoid Proteinosis (Urbach-Wiethe Syndrome). / Hagel, Christian; PANTELIADIS, CP.
Neurocutaneous Disorders: A Clinical, Diagnostic and Therapeutic Approach . Hrsg. / Christos Panteliadis; Ramsis Benjamin; Christian Hagel. 3. Aufl. Zürich : Springer International Publishing, 2022. S. 425-428.Publikationen: SCORING: Beitrag in Buch/Sammelwerk › Kapitel › Forschung
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TY - CHAP
T1 - Lipoid Proteinosis (Urbach-Wiethe Syndrome)
AU - Hagel, Christian
AU - PANTELIADIS, CP
PY - 2022/2/4
Y1 - 2022/2/4
N2 - Lipoid proteinosis (LiP), otherwise known as Urbach-Wiethe syndrome or hyalinosis cutis et mucosae, is a rare autosomal recessive genodermatosis characterized by a faint hoarse voice, warty skin infiltration and scarring, ocular manifestations and less common neuropsychological problems. It is caused by mutations in the extracellular matrix protein 1 gene (ECM1). South Africa carries one of the largest groups of LiP patients in the world. The Namaqualand cohort of 29 LiP patients in South Africa presents with considerable clinical variability. This group of patients could offer a unique opportunity for genotype-phenotype correlation, which to date has failed to show any specific association. The disease commonly manifests in infancy with hoarseness due to pharyngolaryngeal infiltration and various cutaneous manifestations. This chapter describes the clinical aspects, diagnosis, prognosis and management of the disease.
AB - Lipoid proteinosis (LiP), otherwise known as Urbach-Wiethe syndrome or hyalinosis cutis et mucosae, is a rare autosomal recessive genodermatosis characterized by a faint hoarse voice, warty skin infiltration and scarring, ocular manifestations and less common neuropsychological problems. It is caused by mutations in the extracellular matrix protein 1 gene (ECM1). South Africa carries one of the largest groups of LiP patients in the world. The Namaqualand cohort of 29 LiP patients in South Africa presents with considerable clinical variability. This group of patients could offer a unique opportunity for genotype-phenotype correlation, which to date has failed to show any specific association. The disease commonly manifests in infancy with hoarseness due to pharyngolaryngeal infiltration and various cutaneous manifestations. This chapter describes the clinical aspects, diagnosis, prognosis and management of the disease.
M3 - Chapter
SN - 978-3-030-87892-4
SP - 425
EP - 428
BT - Neurocutaneous Disorders
A2 - Panteliadis, Christos
A2 - Benjamin, Ramsis
A2 - Hagel, Christian
PB - Springer International Publishing
CY - Zürich
ER -